The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia

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• 作者：Daniela Galimberti ; Andreas Reif ; Bernardo Dell'Osso ; Sarah Kittel-Schneider ; Christine Leonhard ; Alex ; ra Herr ; Carlotta Palazzo ; Chiara Villa ; Chiara Fenoglio ; Maria Serpente ; Sara .M.G. Cioffi ; Cecilia Prunas ; Riccardo A. Paoli ; A. Carlo Altamura ; Elio Scarpini
• 关键词：Dementia ; Schizophrenia ; Psychosis ; C9ORF72 hexanucleotide repeat expansion ; Phenotype ; Clinical presentation
• 刊名：Neurobiology of Aging
• 出版年：May, 2014
• 年：2014
• 卷：35
• 期：5
• 页码：1214.e7-1214.e10
• 全文大小：201 K

文摘

A hexanucleotide repeat expansions in the first intron of C9ORF72 has been shown to be responsible for a high number of familial cases of amyotrophic lateral sclerosis and/or frontotemporal lobar degeneration. The same mutation has been described in a patient with bipolar disorder, but up to now, not in patients suffering from schizophrenia. We determined the frequency of the C9ORF72 hexanucleotide repeat expansions in a population of 298 patients with schizophrenia or schizoaffective disorder. The pathogenic repeat expansion was detected in 2 patients (0.67%). Both of them presented with auditory hallucinations and had comorbid alcohol abuse. In addition, a positive family history for psychiatric and/or neurodegenerative diseases was present. The repeat expansion in the C9ORF72 gene is a rare, but possible, cause of schizophrenic spectrum disorders. We cannot rule out however whether the number of repeats influence the phenotype.